A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732997



Internal ID156663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52350830..52350881hg38UCSC Ensembl
chr20:50967369..50967420hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554837
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002345


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